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Article

PTCH mutations: distribution and analyses.

Human mutation - 1 Mar 2006

Lindström Erika, Shimokawa Takashi, Toftgård Rune, Zaphiropoulos Peter G

Abstract excerpt

Mutations in the PTCH (PTCH1) gene are the underlying cause of nevoid basal cell carcinoma syndrome (NBCCS), and are also found in many different sporadic tumors in which PTCH is thought to act as a tumor suppressor gene. To investigate the distribution pattern of these mutations in tumors and NBCCS, we analyzed 284 mutations and 48 SNPs located in the PTCH gene that were compiled from our PTCH mutation database....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16419085
DOI: 10.1002/humu.20296

Genes

PTCH1

Provenance

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